Torsion spasm science: the “knowledge point” of torsion spasm

  In general, the neurological examination is generally normal, there is no muscle atrophy, reflexes and superficial and deep sensations are normal, and very few patients may experience joint dislocation due to torsion. Most patients have a slow progression of the disease, which can last for many years, and very few have no progression or remission on their own. In a small number of patients, severe torsional spasm causes fibrosis and degeneration of the soft tissues of the joint, resulting in a permanent contracture deformity and atrophy of the muscles surrounding the joint.  Torsional spasm refers to the inability to twist at will due to a muscle disorder, mostly due to genetic reasons. The following next to learn about this disease, as the so-called know your enemy a hundred battles, in fact, the treatment is also the same, to fully understand the disease, we can pay attention in the usual, in order to early detection and early treatment.  1.Etiology Some autosomal dominant patients are caused by mutations in the DYT1 gene on the long arm of chromosome 9 (9q34). Idiopathic torsional spasm has an unknown etiology and is mostly disseminated, with a few having a family history. Symptomatic torsion spasms are seen in various diseases involving the basal nucleus, such as infection (post-encephalitis), degeneration (hepatomegaly, Hallervorden-Spatz disease), toxicity (especially CO and levodopa, phenothiazines or butylphenols overdose), metabolic disorders (calcification of the basal nucleus, brain lipid deposits), trauma and tumors.  2. Clinical manifestations Torsional spasms are mainly involuntary spasms and twisting of the trunk and limbs, but the shape of such movements is bizarre and variable. The onset of the disease is slow, often starting in one or both feet with spastic plantar flexion. Once the extremities are involved, the proximal muscles are heavier than the distal muscles, and the cervical muscles are invaded with a spastic oblique neck. Involvement of the trunk muscles and paraspinal muscles causes twisting or spiral movement of the whole body, which is the characteristic manifestation of the disease. The twisting spasm increases during exercise or stress, and disappears during quiet or sleep. Myotonia increases during the twisting movement and becomes normal or decreases after the twisting movement stops, hence the name deformational dystonia. In severe cases, there is slurred speech, restricted swallowing, and mental retardation.  In general, the neurological examination is generally normal, there is no muscle atrophy, reflexes and superficial sensation are normal, and very few patients may have joint dislocation due to torsion. Most patients have a slow progression of the disease, which can last for many years, and very few have no progression or remission on their own. In a few patients, severe torsional spasm causes fibrosis and degeneration of the soft tissues of the joint, resulting in a permanent contracture deformity and atrophy of the muscles surrounding the joint.  The prognosis of primary torsional spasm is highly variable, with age of onset and location being the two main factors affecting prognosis. Those with early onset (before 15 years of age) and those with onset in the lower extremities are mostly progressive and almost always develop a generalized form with a poor prognosis, most dying several years after onset and rarely resolving on their own. Those with adult onset of symptoms starting in the upper extremities have a better prognosis, and involuntary movements tend to be confined to the site of onset for a long time. The autosomal dominant or epidemic type has a better prognosis than the recessive type because the former has a later age of onset and tends to start in the upper extremities.  Blood electrolytes, drugs, trace elements and biochemical tests can help in differential diagnosis and classification.  (CT, MRI Positron emission tomography (PET) or single photon emission tomography (SPECT) are useful for differential diagnosis.  (2). Genetic analysis It is important to confirm the diagnosis of certain hereditary dystonia diseases.  The above is the introduction of Professor Wang Xuelian torsion spasm, we should read in detail, their own study, if necessary, you can go to the Internet or the library to find some information to check this disease, so that early detection and early treatment, prevention is better than cure. After the disease to maintain a positive and healthy state of mind, which is conducive to the condition.